Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.

ABSTRACT:

Purpose

Genetic variants in the complement factor H gene (CFH) have been consistently implicated in age-related macular degeneration (AMD) risk. However, their functional effects are not fully characterized. We previously identified a rare, AMD-associated variant in CFH (P503A, rs570523689) in 19 Amish individuals, but its functional consequences were not investigated.

Methods

We performed genotyping for CFH P503A in 1326 Amish individuals to identify additional risk allele carriers. We examined differences for age at AMD diagnosis between carriers and noncarriers. In blood samples from risk allele carriers and noncarriers, we quantified (i) CFH RNA expression, (ii) CFH protein expression, and (iii) C-reactive protein (CRP) expression. Potential changes to the CFH protein st

SUBMITTER: Waksmunski AR 

PROVIDER: S-EPMC9363678 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature